Noonan syndrome and aortic coarctation

American Journal of Medical Genetics

Volumn 80, Issue 2, 1998, Pages 160-162

  Digilio, Maria Cristina ^a   Marino, Bruno ^a   Picchio, Fernando ^b   Prandstraller, Daniela ^b   Toscano, Alessandra ^a   Giannotti, Aldo ^a   Dallapiccola, Bruno ^c  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Aortic coarctation; Congenital heart defect; Noonan syndrome

Indexed keywords

ADOLESCENT; AORTA COARCTATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; FACE MALFORMATION; FEMALE; GROWTH RETARDATION; HUMAN; INFANT; MACROCEPHALY; MALE; NIPPLE MALFORMATION; NOONAN SYNDROME; PRIORITY JOURNAL; SHORT STATURE;

ADOLESCENT; AORTIC COARCTATION; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; NOONAN SYNDROME; PEDIGREE;

EID: 0031790484     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:2<160::AID-AJMG13>3.0.CO;2-A     Document Type: Article

References (28)

1. Allanson JE (1987): Noonan syndrome. J Med Genet 24:9-13.
2. Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W (1993): Cardiologic abnormalities in Noonan syndrome: Phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 22:1189-1192.
3. Cohen MM Jr, Gorlin RJ (1991): Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 40:159-166.
4. Coppin BD, Temple IK (1997): Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 34:582-586.
5. Digilio MC, Marino B, Giannotti A, Dallapiccola B (1996): Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot. Am J Med Genet 62:413-114.
6. Digilio MC, Marino B, Giannotti A, Dallapiccola B (1997): Noonan syndrome with cardiac left-sided obstructive lesions. Hum Genet 99:289.
7. Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR, Huot DJ, Sondheimer HM, Rowe RD (1981): A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet 10:37-50.
8. Ferguson-Smith MA (1991): Genotype-phenotype correlations in individuals with disorders of sex determination and development including Turner's syndrome. Semin Dev Biol 2:265-276.
9. Fernandez FG, Freie CP, Benito LP, Pérez AC, Carasa JCV, Villalobos JL (1983): Sindrome de Ullrich-Noonan asociado a coartacion de aorta: Presentacion de un nuevo caso. Med Clin (Barc) 81:278-279.
10. Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Nakahori Y, Matsuo N (1996): Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Hum Genet 97:564-567.
11. Marino B, Gagliardi MG, Digilio MC, Polletta B, Grazioli S, Agostino D, Giannotti A, Dallapiccola B (1995): Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction. Eur J Pediatr 154:949-952.
12. Marino B, Digilio MC, Gagliardi MG, Giannotti A, Dallapiccola B (1996): Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome. Pediatr Cardiol 17:278.
13. Mendez HMM (1985): The neurofibromatosis-Noonan syndrome. Am J Med Genet 21:471-476.
14. Mendez HMM, Opitz JM (1985): Noonan syndrome: A review. Am J Med Genet 21:493-506.
15. Neri G, Sabatino G, Bertini E, Genuardi M (1987): The CFC syndrome - Report of the first two cases outside the United States. Am J Med Genet 27:767-771.
16. Noonan JA, Ehmke DA (1963): Associated non-cardiac malformations in children with congenital heart disease. J Pediatr 63:468-470.
17. Nora JJ, Torres FG, Sinha AK, McNamara DG (1970): Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype, and XO/XX Turner mosaic. Am J Cardiol 25:639-641.
18. Nora JJ, Lortscher RH, Spangler RD (1975): Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Am J Dis Child 129:1417-1420.
19. Ogata T, Matsuo N (1995): Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features. Hum Genet 95:607-629.
20. Phornphutkul C, Rosenthal A, Nadas AS (1973): Cardiomyopathy in Noonan syndrome. Br Heart J 35:99-102.
21. Preus M (1984): Differential diagnosis of the Williams and the Noonan syndromes. Clin Genet 25:429-434.
22. Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM (1986): New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement - The CFC syndrome. Am J Med Genet 25:413-427.
23. Sharland M, Burch M, McKenna WM, Paton MA (1992): A clinical study of Noonan syndrome. Arch Dis Child 67:178-183.
24. Sharland M, Morgan M, Smith G, Burch M, Patton M (1993): Genetic counseling in Noonan syndrome. Am J Med Genet 45:437-440.
25. Siggers DC, Polani PE (1972): Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosome (Ullrich's and related syndromes). Br Heart J 34:41-46.
26. Sreeram N, Kitchiner D, Smith A (1994): Spectrum of valvar abnormalities in Noonan's syndrome - a pathologic study. Cardiol Young 4:62-66.
27. Van der Hauwaert LG, Fryns JP, Dumoulin M, Logghe N (1978): Cardiovascular malformations in Turner's and Noonan's syndrome. Br Heart J 40:500-509.
28. Zarabi M, Mieckowski GC, Mazer J (1983): Cystic hygroma associated with Noonan's syndrome. J Clin Ultrasound 11:398-400.